A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

ABSTRACT:

Background

Causative variants in genes of the EDA/EDAR/NF-κB pathway, such as EDA and EDARADD, have been widely identified in patients with non-syndromic tooth agenesis (NSTA). However, few cases of NSTA are due to ectodysplasin-A receptor (EDAR) variants. In this study, we investigated NSTA-associated variants in Chinese families.

Methods

Peripheral blood samples were collected from the family members of 24 individuals with NSTA for DNA extraction. The coding region of the EDA gene of the 24 probands was amplified by PCR and sequenced to investigate new variants. Whole-exome sequencing and Sanger sequencing were then performed for probands without EDA variants detected by PCR.

Results

A novel missense variant EDAR c.338G>A (p.(Cys113Tyr)) was identified in one family

SUBMITTER: Zhang H 

PROVIDER: S-EPMC8222839 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature